 Haploinsufficiency
"Haploinsufficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.
| Descriptor ID |
D057895
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| MeSH Number(s) |
G05.365.590.029.530.587 G05.380.350.500
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Haploinsufficiency".
Below are MeSH descriptors whose meaning is more specific than "Haploinsufficiency".
This graph shows the total number of publications written about "Haploinsufficiency" by people in this website by year, and whether "Haploinsufficiency" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 1 | 0 | 1 | | 2011 | 3 | 2 | 5 | | 2012 | 0 | 1 | 1 | | 2013 | 5 | 2 | 7 | | 2014 | 2 | 2 | 4 | | 2015 | 0 | 1 | 1 | | 2016 | 1 | 3 | 4 | | 2017 | 1 | 2 | 3 | | 2018 | 1 | 2 | 3 | | 2019 | 1 | 3 | 4 | | 2020 | 0 | 1 | 1 | | 2021 | 2 | 1 | 3 |
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Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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Cook SL, Sievert EP, Sciammas R. B Cell-Intrinsic IRF4 Haploinsufficiency Impairs Affinity Maturation. J Immunol. 2021 12 15; 207(12):2992-3003.
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Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hancárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedlácek Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Genet Med. 2021 07; 23(7):1234-1245.
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Dieterich IA, Cui Y, Braun MM, Lawton AJ, Robinson NH, Peotter JL, Yu Q, Casler JC, Glick BS, Audhya A, Denu JM, Li L, Puglielli L. Acetyl-CoA flux from the cytosol to the ER regulates engagement and quality of the secretory pathway. Sci Rep. 2021 01 21; 11(1):2013.
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Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, Wilson GN, Cathey SS, Louie RJ, Gaudio DD, Waggoner D, Kacker S, Nugent KM, Roeder ER, Bruel AL, Thevenon J, Ehmke N, Horn D, Holtgrewe M, Kaiser FJ, Kamphausen SB, Abou Jamra R, Weckhuysen S, Dalle C, Depienne C. Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 12 01; 143(12):3564-3573.
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West AH, Knollman H, Dugan J, Hedeker D, Handorf EA, Nielsen SM, Bealin LC, Goldblatt LG, Willems H, Daly MB, Afghahi A, Olopade OI, Hulick PJ, Shagisultanova E, Huo D, Obeid E, Churpek JE. Hematologic toxicity in BRCA1 and BRCA2 mutation carriers during chemotherapy: A retrospective matched cohort study. Cancer Med. 2019 09; 8(12):5609-5618.
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Liu J, Cheng H, Xiang M, Zhou L, Wu B, Moskowitz IP, Zhang K, Xie L. Gata4 regulates hedgehog signaling and Gata6 expression for outflow tract development. PLoS Genet. 2019 05; 15(5):e1007711.
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Fuller ZL, Berg JJ, Mostafavi H, Sella G, Przeworski M. Measuring intolerance to mutation in human genetics. Nat Genet. 2019 05; 51(5):772-776.
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Montefiori LE, Nobrega MA. Gene therapy for pathologic gene expression. Science. 2019 01 18; 363(6424):231-232.
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Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 11 01; 103(5):752-768.
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Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465.
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